| Literature DB >> 19786043 |
Alexandra C Silveira1, Margaux A Morrison, Fei Ji, Haiyan Xu, James B Reinecke, Scott M Adams, Trevor M Arneberg, Maria Janssian, Joo-Eun Lee, Yang Yuan, Debra A Schaumberg, Maria G Kotoula, Evangeline E Tsironi, Aristoteles N Tsiloulis, Dimitrios Z Chatzoulis, Joan W Miller, Ivana K Kim, Gregory S Hageman, Lindsay A Farrer, Neena B Haider, Margaret M DeAngelis.
Abstract
To identify novel genes and pathways associated with AMD, we performed microarray gene expression and linkage analysis which implicated the candidate gene, retinoic acid receptor-related orphan receptor alpha (RORA, 15q). Subsequent genotyping of 159 RORA single nucleotide polymorphisms (SNPs) in a family-based cohort, followed by replication in an unrelated case-control cohort, demonstrated that SNPs and haplotypes located in intron 1 were significantly associated with neovascular AMD risk in both cohorts. This is the first report demonstrating a possible role for RORA, a receptor for cholesterol, in the pathophysiology of AMD. Moreover, we found a significant interaction between RORA and the ARMS2/HTRA1 locus suggesting a novel pathway underlying AMD pathophysiology. Copyright 2009 Elsevier Ltd. All rights reserved.Entities:
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Year: 2009 PMID： 19786043 PMCID： PMC2884392 DOI： 10.1016/j.visres.2009.09.016
Source DB: PubMed Journal: Vision Res ISSN： 0042-6989 Impact factor: 1.886